HbH disease due to compound heterozygosity for hemoglobins Zürich‐Albisrieden and Sallanches

Sharma, Prashant; Das, Reena; Khadwal, Alka; Karmakar, Indrani; Hira, Jasbir Kaur; Chhabra, Sanjeev

doi:10.1002/pbc.28161

Cited by 3 publications

(5 citation statements)

References 9 publications

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“…Common α‐globin gene deletions were absent. His α‐globin gene sequence showed presence of two heterozygous amino acid changes at Codon 59 (Gly to Arg) and Codon 104 (Cys to Tyr) 56 …”

Section: Resultsmentioning

confidence: 99%

“…Hb Brugg has been reported among Swiss and Hispanic‐American individuals 60 . Alpha globin gene variants associated with α‐thalassemia (HbEvanston) and HbH disease (Hb αα/α HbSallanches α Zurich‐ Albisrieden ) were also reported from India 8,56 …”

Section: Discussionmentioning

confidence: 98%

“…60 Alpha globin gene variants associated with α-thalassemia (HbEvanston) and HbH disease (Hb αα/α HbSallanches α Zurich-Albisrieden ) were also reported from India. 8,56 Few δ-globin gene variants have also been identified among Indians. The expression of the δ-globin gene is very low and hence a mutation in the gene has no clinical implications but it reduces the HbA 2 level below normal, sometimes to almost zero percent.…”

Section: Delta Gene Variants and Double Heterozygous Variantsmentioning

confidence: 99%

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Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review

Thaker,

Mahajan,

Mukherjee

et al. 2024

Int J Lab Hematology

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The hemoglobin (Hb) variants are qualitative abnormalities due to production of structurally abnormal globin proteins. They are categorized based on the type of mutation present in the α1, α2, β, Gγ, Aγ and δ globin genes. So far, more than 1550 Hb variants are reported in the database. They could lead to Hb polymerization, Hb instability, altered oxygen affinity and decreased oxygen‐carrying capacity of Hb or have no clinical manifestations. In India, ethnic diversity, consanguinity, regional variations and migration result in the presence of different Hb variants. We have compiled all the variants of α, β and δ globin chains in heterozygous, homozygous and in compound heterozygous forms reported from India in the last 52 years. Of the 63 rare and novel hemoglobin variants reported from India, 22 were α‐globin chain variants, 37 were β‐globin chain variants and 4 were δ‐globin chain variants. Twelve novel Hb variants (Hb J Rajappan, Hb Koya Dora, Hb Rampa, Hb Godavari, Hb Chandigarh, Hb D Agri, Hb Lucknow, Hb Vellore, Hb Midnapore, Hb Bijnor, Hb A2Tianhe and Hb A2Saurashtra) were identified among persons of Indian origin. Majority of them were picked up on HPLC. Some of the variants like Hb Titusville, Hb Shimonoseki, Hb Chandigarh, Hb D Agri, Hb Yaizu and Hb Vellore eluted in the HbS window whereas variants like HbD Iran, Hb St. Louis, Hb G Coushata, HbM Saskatoon, Hb Lucknow, Hb Grange‐Blanche and Hb Tianshui showed falsely elevated HbA2. Hence, careful and systematic investigations are required to identify them.

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“…Common α‐globin gene deletions were absent. His α‐globin gene sequence showed presence of two heterozygous amino acid changes at Codon 59 (Gly to Arg) and Codon 104 (Cys to Tyr) 56 …”

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 98%

Section: Delta Gene Variants and Double Heterozygous Variantsmentioning

confidence: 99%

See 1 more Smart Citation

Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review

Thaker,

Mahajan,

Mukherjee

et al. 2024

Int J Lab Hematology

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“…Another study from Chandigarh reported HbH disease due to compound heterozygosity for Hb Zürich-Albisrieden and Hb Sallanches (αα/α HbSallanches α Zurich -Albisrieden ), a rare combination. The patient had recurrent anemia with jaundice, reticulocytosis, intermittent blood transfusion requirements and splenomegaly [16].…”

Section: Resultsmentioning

confidence: 99%

“…The alpha Sallanches mutation does not produce abnormal αβ tetramers but produces free Sallanches chains which form dimers with β chains, which is why no abnormal hemoglobin fraction is detected in the patient and the relative excess β chains form tetramers (Hb H) [30]. The compound heterozygous condition of Hb Sallanches with the rare hemoglobin variant Hb Zürich-Albisrieden resulting in a severe phenotype has also been reported in an Indian [16]. The Southeast Asian (-SEA ) deletion is the most common and severe form of α thalassemia highly prevalent in Southeast Asia and South China.…”

Section: Discussionmentioning

confidence: 99%

Molecular Heterogeneity of Hb H Disease in India

Thaker

Mahajan

Mukherjee

et al. 2022

Thalassemia Reports

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Alpha thalassemia is an autosomal recessive disorder caused by large deletions and/or point mutations in the α- globin genes. Hemoglobin H (Hb H) disease is most frequently due to deletion of three of the four α globin genes associated with variable clinical severity depending on the genotype. There are few reports on Hb H disease in Indians where genotyping has been done and we have reviewed the molecular and clinical heterogeneity of these cases. An electronic search for relevant articles was conducted using two journal databases, i.e., PubMed and Science Direct using the key words “Hb H Disease”, “Hemoglobin H”, “α-thalassemia”, “mutations”, “molecular heterogeneity”, “case reports” and “India”. This review was performed based on preferred reporting items for the systematic review and meta-analysis protocols (PRISMA-P) guidelines. The molecular spectrum of Hb H disease in Indians includes the most common [-α3.7, -α4.2, --SA, Poly A (AATAAA→AATA--), Hb Sallanches], rare [--SEA, --MED, IVS 1nt 1 (G→A), Hb Koya Dora, Hb Sun Prairie], very rare [Hb Iberia, Hb Seal Rock, Hb Zürich-Albisrieden] and novel [Codon 76 (+T) and --Kol] α-globin gene mutations inherited largely as compound heterozygotes with considerable clinical variability. The molecular diagnosis of Hb H disease is important for genetic counseling and management.

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α, β, δ and γ thalassaemias and related conditions

2024

Haemoglobinopathy Diagnosis

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HbH disease due to compound heterozygosity for hemoglobins Zürich‐Albisrieden and Sallanches

Cited by 3 publications

References 9 publications

Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review

Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review

Molecular Heterogeneity of Hb H Disease in India

α, β, δ and γ thalassaemias and related conditions

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